Annotation Detail

Information
Associated Genes
RASA1
Associated Variants
RASA1 MUTATION
RASA1 MUTATION
Associated Disease
Arteriovenous fistula
Source Database
DisGeNET
Description
These RASA1-associated cutaneous capillary malformations (CMs) can accompany internal or cutaneous arteriovenous malformation (AVM) or arteriovenous fistula to constitute CM-AVM syndrome.
Pubmed
23829194
Section of the abstract supporting the evidence
ALL_TEXT_3/3
Number of the section of the abstract supporting the evidence
3
Number of the sentence supporting the evidence
3
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00081432561624091
Drugs